UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Missing heritability and where to find it

Genome Biology, 2017-05, Vol.18 (1), p.89-89, Article 89

Girirajan, Santhosh

2017

Volltextzugriff (PDF)

An interaction-based model for neuropsychiatric features of copy-number variants

PLoS genetics, 2019-01, Vol.15 (1), p.e1007879

2019

Volltextzugriff (PDF)

Human Copy Number Variation and Complex Genetic Disease

Annual review of genetics, 2011-01, Vol.45 (1), p.203-226

2011

Volltextzugriff (PDF)

Functional significance of rare neuroligin 1 variants found in autism

PLoS genetics, 2017-08, Vol.13 (8), p.e1006940-e1006940

2017

Volltextzugriff (PDF)

Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms

Genome medicine, 2021-06, Vol.13 (1), p.99-99, Article 99

2021

Volltextzugriff (PDF)

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

PLoS genetics, 2021-09, Vol.17 (9), p.e1009777-e1009777

2021

Volltextzugriff (PDF)

Mapping a shared genetic basis for neurodevelopmental disorders

Genome medicine, 2017-12, Vol.9 (1), p.109-109, Article 109

2017

Volltextzugriff (PDF)

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Nature (London), 2012-05, Vol.485 (7397), p.246-250

2012

Volltextzugriff (PDF)

A machine-learning approach for accurate detection of copy number variants from exome sequencing

Genome research, 2019-07, Vol.29 (7), p.1134-1143

2019

Volltextzugriff (PDF)

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Nature genetics, 2011-06, Vol.43 (6), p.585-589

2011

Volltextzugriff (PDF)

Differences in the rare variant spectrum among human populations

PLoS genetics, 2017-02, Vol.13 (2), p.e1006581-e1006581

2017

Volltextzugriff (PDF)

A copy number variation morbidity map of developmental delay

Nature genetics, 2011-09, Vol.43 (9), p.838-846

2011

Volltextzugriff (PDF)

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency

PLoS genetics, 2022-06, Vol.18 (6), p.e1010228-e1010228

2022

Volltextzugriff (PDF)

Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

PLoS genetics, 2016-10, Vol.12 (10), p.e1006391-e1006391

2016

Volltextzugriff (PDF)

Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila

PLoS genetics, 2022-05, Vol.18 (5), p.e1010159-e1010159

2022

Volltextzugriff (PDF)

Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits

PLoS genetics, 2023-06, Vol.19 (6), p.e1010780-e1010780

2023

Volltextzugriff (PDF)

Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing

PLoS genetics, 2021-10, Vol.17 (10), p.e1009835-e1009835

2021

Volltextzugriff (PDF)

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

American journal of human genetics, 2012-03, Vol.90 (3), p.502-510

2012

Volltextzugriff (PDF)

Molecular basis for phenotypic similarity of genetic disorders

Genome medicine, 2019-04, Vol.11 (1), p.24-24, Article 24

2019

Volltextzugriff (PDF)

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

PLoS genetics, 2020-11, Vol.16 (11), p.e1008802-e1008802

2020

Volltextzugriff (PDF)

Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis

PLoS genetics, 2021-04, Vol.17 (4), p.e1009112

2021

Volltextzugriff (PDF)

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

PLoS genetics, 2011-11, Vol.7 (11), p.e1002334

2011

Volltextzugriff (PDF)

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

American journal of human genetics, 2009-02, Vol.84 (2), p.148-161

2009

Volltextzugriff (PDF)

Lessons from model organisms: phenotypic robustness and missing heritability in complex disease

PLoS genetics, 2012-11, Vol.8 (11), p.e1003041-e1003041

2012

Volltextzugriff (PDF)

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

Genome medicine, 2019-10, Vol.11 (1), p.65-65, Article 65

2019

Volltextzugriff (PDF)

1 – 25 von 125

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(116)
Mit Volltextzugriff
(106)

Publikationsform

Sprache

Englisch
(125)
Japanisch
(25)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Missing heritability and where to find it

An interaction-based model for neuropsychiatric features of copy-number variants

Human Copy Number Variation and Complex Genetic Disease

Functional significance of rare neuroligin 1 variants found in autism

Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

Mapping a shared genetic basis for neurodevelopmental disorders

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

A machine-learning approach for accurate detection of copy number variants from exome sequencing

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Differences in the rare variant spectrum among human populations

A copy number variation morbidity map of developmental delay

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency

Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila

Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits

Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Molecular basis for phenotypic similarity of genetic disorders

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Lessons from model organisms: phenotypic robustness and missing heritability in complex disease

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

Suchergebnisse filtern